Variant Results

or

or

Results for "FXYD5"

Variant Events: 18

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

FXYD5

11456.p1

chr19:
35661119-35661119

T

A

downstream

De novo

-

-

Turner2016 G

FXYD5

AU3874301

chr19:
35680364-35680364

A

T

intergenic

De novo

-

-

Yuen2017 G

FXYD5

5-0073-003

chr19:
35648337-35648337

A

G

exonic

De novo

synonymous SNV

NM_001164605
NM_014164
NM_144779

c.A75G
c.A75G
c.A75G

p.K25K
p.K25K
p.K25K

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

FXYD5

1-0160-004

chr19:
35699740-35699740

G

GCC

intergenic

De novo

-

-

Yuen2017 G

FXYD5

5-0073-003

chr19:
35648395-35648395

C

T

exonic

De novo

stopgain

NM_001164605
NM_014164
NM_144779

c.C133T
c.C133T
c.C133T

p.R45X
p.R45X
p.R45X

13.53

Trost2022 G
Yuen2017 G
Zhou2022 GE

FXYD5

2-1605-004

chr19:
35679123-35679123

C

T

intergenic

De novo

-

-

Yuen2017 G

FXYD5

2-1416-004

chr19:
35665594-35665594

G

A

intergenic

De novo

-

-

Yuen2017 G

FXYD5

AU4027306

chr19:
35691164-35691164

C

T

intergenic

De novo

-

-

Yuen2017 G

FXYD5

iHART2168

chr19:
35660473-35660473

C

CA

exonic

Paternal

frameshift insertion

NM_001164605
NM_014164
NM_144779

c.493dupA
c.493dupA
c.493dupA

p.G164fs
p.G164fs
p.G164fs

-

-

Ruzzo2019 G

FXYD5

iHART3275

chr19:
35648395-35648395

C

T

exonic

Paternal

stopgain

NM_001164605
NM_014164
NM_144779

c.C133T
c.C133T
c.C133T

p.R45X
p.R45X
p.R45X

13.53

Ruzzo2019 G

FXYD5

200675689@1082034232

chr19:
35655068-35655069

CT

C

exonic

De novo

frameshift deletion

NM_001164605
NM_014164
NM_144779

c.303delT
c.303delT
c.303delT

p.T101fs
p.T101fs
p.T101fs

-

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FXYD5

AU1952305

chr19:
35676354-35676354

G

T

intergenic

De novo

-

-

Yuen2017 G

FXYD5

SP0143256

chr19:
35651708-35651708

T

G

intronic

De novo

-

-

Trost2022 G

FXYD5

SP0140723

chr19:
35651708-35651708

T

G

intronic

De novo

-

-

Trost2022 G

FXYD5

Chen2017:106

chr19:
35655068-35655069

CT

C

exonic

De novo

frameshift deletion

NM_001164605
NM_014164
NM_144779

c.303delT
c.303delT
c.303delT

p.T101fs
p.T101fs
p.T101fs

-

-

Chen2017 E

FXYD5

200675689_1082034232

chr19:
35655068-35655069

CT

C

exonic

De novo

frameshift deletion

NM_001164605
NM_014164
NM_144779

c.303delT
c.303delT
c.303delT

p.T101fs
p.T101fs
p.T101fs

-

-

Fu2022 E

FXYD5

mAGRE2168

chr19:
35660473-35660473

C

CA

exonic

Paternal

frameshift insertion

NM_001164605
NM_014164
NM_144779

c.493dupA
c.493dupA
c.493dupA

p.G164fs
p.G164fs
p.G164fs

-

-

Cirnigliaro2023 G

FXYD5

AU4067301

chr19:
35648395-35648395

C

T

exonic

Paternal

stopgain

NM_001164605
NM_014164
NM_144779

c.C133T
c.C133T
c.C133T

p.R45X
p.R45X
p.R45X

13.53

Cirnigliaro2023 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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